NIH Rare Diseases:42 Muckle-wells syndromeÂ is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (caps). signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, andÂ pinkeye;Â progressive sensorineural deafness;Â and amyloidosis. it is caused by mutations in the nlrp3 gene and is inherited in an autosomal dominant manner. treatment includes a medication called anakinra during acute episodes.
last updated: 4/7/2014

MalaCards based summary: Muckle-Wells Syndrome, also known as urticaria-deafness-amyloidosis syndrome, is related to urticaria and adult-onset still's disease, and has symptoms including sensorineural hearing impairment, arthritis and splenomegaly. An important gene associated with Muckle-Wells Syndrome is NLRP3 (NLR family, pyrin domain containing 3), and among its related pathways are TRAF Pathway and Monoamine Transport. The compounds mevalonate and tenidap have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and neutrophil, and related mouse phenotypes are liver/biliary system and integument.

Genetics Home Reference:22 Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder.